scholarly journals Spontaneous perforation of the stomach and duodenum in children with Ehlers‑Danlos syndrome

2021 ◽  
Vol 1 (1) ◽  
pp. 176-182
Author(s):  
M. A. Amanova ◽  
A. N. Smirnov ◽  
V. V. Kholostova ◽  
A. G. Mannanov ◽  
S. A. Voina ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Collagen Synthesis ◽  
Soft Tissues ◽  
Clinical Manifestations ◽  
Elastic Fibers ◽  
Ehlers Danlos Syndrome ◽  
Vascular Type ◽  
The Individual ◽  
Rupture Of The Spleen ◽  
Danlos Syndrome

Ehlers-Danlos syndrome is based on hereditary systemic dysfunction of the connective tissue caused by impaired collagen synthesis. Depending on the individual mutation, the clinical manifestations of the syndrome can range from mild to life-threatening. The result of a violation of collagen synthesis is the proliferation of elastic fibers, loss of compactness and disorientation of collagen fibers, fragility of the vessel wall and expansion of their lumen. And, given that connective tissue fibers are present in almost every organ, the manifestations of Ehlers-Danlos syndrome are polymorphic and generalized, which often complicates the verification of this disease. The most clinically important is the Ehlers-Danlos Syndrome IV (vascular) type, which occurs as a result of mutations in the COL3A1 and COL1A1 genes and manifests itself in a tendency to spontaneous rupture of large arteries and hollow organs (intestinal perforation, strokes, rupture of the spleen, etc.), poor wound healing, fragility soft tissues, impaired hemostasis. The article describes our own experience of treating 4 patients with spontaneous ruptures of internal organs, including those of a recurrent nature.

Inherited defects of connective tissue: Ehlers–Danlos syndrome, Marfan’s syndrome, and pseudoxanthoma elasticum

2010 ◽  
pp. 3771-3787
Author(s):  
N.P. Burrows
Keyword(s):  
Extracellular Matrix ◽  
Connective Tissue ◽  
Collagen Synthesis ◽  
Pseudoxanthoma Elasticum ◽  
Matrix Proteins ◽  
Structural Defects ◽  
Inherited Disorders ◽  
Ehlers Danlos Syndrome ◽  
Synthesis And Processing ◽  
Danlos Syndrome

The inherited disorders of connective tissue are all conditions in which structural defects in collagen or other extra cellular matrix proteins lead to its fragility, with the commonest sites of involvement being the skin, ligaments and vasculature. EDS is a heterogeneous group of disorders resulting from abnormalities in collagen synthesis and processing, or of other extracellular matrix proteins. They can be classified on the basis of descriptive clinical phenotype and/or underlying molecular cause. Most cases are autosomal dominant, but 30 to 50% may be sporadic....

scholarly journals Spontaneous Diaphragmatic Rupture in Hypermobile Type Ehlers-Danlos Syndrome

2017 ◽  
Vol 2017 ◽  
pp. 1-3 ◽  
Author(s):  
Ruchi Amin ◽  
Brett H. Waibel
Keyword(s):  
Connective Tissue ◽  
Surgical Intervention ◽  
Clinical Manifestations ◽  
Acute Onset ◽  
Diaphragmatic Rupture ◽  
Shortness Of Breath ◽  
Significant Morbidity ◽  
Connective Tissue Disorders ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

Ehlers-Danlos Syndrome refers to a spectrum of connective tissue disorders that have a variety of clinical manifestations. In this case, we present a spontaneous diaphragmatic rupture in a patient with type III Ehlers-Danlos Syndrome. The patient presented with worsening shortness of breath after failure of medical therapy for a presumed pneumonia. A CT scan was obtained which showed diaphragmatic rupture with splenic herniation which was repaired in the operating room via thoracotomy. It is important to include diaphragmatic rupture in the differential diagnosis for patients with connective tissue disease and acute onset tachypnea and pain, as this complication has the potential for significant morbidity without prompt surgical intervention.

scholarly journals Vascular Type of Ehlers–Danlos Syndrome – a Rare Monogenic Connective Tissue Disease

2021 ◽  
Vol 65 (6) ◽  
pp. 84-90
Author(s):  
А. N. Semyachkina ◽  
E. А. Nikolaeva ◽  
I. S. Dantsev ◽  
L. P. Melikyan ◽  
M. S. Pavlova
Keyword(s):  
Connective Tissue ◽  
Clinical Diagnosis ◽  
Mineral Metabolism ◽  
Molecular Genetic ◽  
Pathogenic Mutation ◽  
Type Iii Collagen ◽  
Ehlers Danlos Syndrome ◽  
Vascular Walls ◽  
Vascular Type ◽  
Danlos Syndrome

The Ehlers-Danlos syndrome is a rare (orphan) disease characterized by the connective tissue dysplasia, fragility of the blood vessels and tissues, and variable clinical pattern. The vascular type of Ehlers-Danlos syndrome, which belongs to Group A according to the classification of 2017, is caused by the mutations in gene of alpha-1 chain of type III collagen COL3A1. The disease is characterized by the high mortality rate of the patients due to the spontaneous ruptures of the vascular walls and hollow viscera. The International Consortium (2017) developed the criteria for the clinical diagnosis of the vascular type of Ehlers – Danlos syndrome. The clinical case of the 16-year-old male patient with vascular type of Ehlers – Danlos syndrome is presented. The molecular genetic testing revealed in the child the previously described pathogenic mutation of splice site p.Gly798_Pro815del of COL3A1 gene associated with the severe course of the disease. In spite of the set of therapy measures aimed at the vascular reinforcement, stimulation and normalization of energy and mineral metabolism, the death occurred in 10 months due to the rupture of the aorta and renal artery. The Conclusion of the forensic medical examination is presented. The results of the care presented indicate that in order to avoid the omission of patients, it is advisable to revise the minimum set of signs required for the clinical diagnosis.

scholarly journals VASCULAR EHLERS-DANLOS SYNDROME IN A 38-YEAR-OLD WOMAN

2018 ◽  
pp. 105-108
Author(s):  
E. G. Malayeva ◽  
E. E. Karpenko ◽  
E. V. Tsitko
Keyword(s):  
Connective Tissue ◽  
Autosomal Dominant ◽  
Specific Treatment ◽  
Autosomal Dominant Disorder ◽  
Ehlers Danlos Syndrome ◽  
Clinical Criteria ◽  
Vascular Type ◽  
Col3a1 Gene ◽  
Danlos Syndrome ◽  
Procollagen Iii

Vascular Ehlers-Danlos syndrome is a rare inherited autosomal dominant disorder of connective tissue caused by a mutation in the procollagen III gene (COL3A1 gene). Among all the types of the disease the vascular type involves ~5-10% of cases. The diagnosis is based on clinical criteria and mutations in the COL3A1 gene. The treatment of Ehlers-Danlos syndrome is symptomatic, there is no specific treatment.

scholarly journals Hereditary Connective Tissue Diseases in Young Adult Stroke: A Comprehensive Synthesis

2011 ◽  
Vol 2011 ◽  
pp. 1-18 ◽  
Author(s):  
Olivier M. Vanakker ◽  
Dimitri Hemelsoet ◽  
Anne De Paepe
Keyword(s):  
Connective Tissue ◽  
Metabolic Disorders ◽  
Type Iv Collagen ◽  
Connective Tissue Diseases ◽  
Haemorrhagic Stroke ◽  
Monogenic Disease ◽  
Connective Tissue Disorders ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Danlos Syndrome

Though the genetic background of ischaemic and haemorrhagic stroke is often polygenetic or multifactorial, it can in some cases result from a monogenic disease, particularly in young adults. Besides arteriopathies and metabolic disorders, several connective tissue diseases can present with stroke. While some of these diseases have been recognized for decades as causes of stroke, such as the vascular Ehlers-Danlos syndrome, others only recently came to attention as being involved in stroke pathogenesis, such as those related to Type IV collagen. This paper discusses each of these connective tissue disorders and their relation with stroke briefly, emphasizing the main clinical features which can lead to their diagnosis.

scholarly journals Spontaneous Dissection of the Renal Artery in Vascular Ehlers-Danlos Syndrome

2015 ◽  
Vol 2015 ◽  
pp. 1-4 ◽  
Author(s):  
Filipa Pereira ◽  
Teresa Cardoso ◽  
Paula Sá
Keyword(s):  
Renal Artery ◽  
Cardiopulmonary Arrest ◽  
Fatal Outcome ◽  
Vascular Complication ◽  
Autosomal Dominant Disorder ◽  
Ehlers Danlos Syndrome ◽  
Vascular Type ◽  
Recent Diagnosis ◽  
The Right ◽  
Danlos Syndrome

Ehlers-Danlos syndrome(EDS) is a rare heterogeneous group of connective tissue disorders. The vascular type (vEDS) is an autosomal dominant disorder caused by heterozygous mutations in theCOL3A1gene predisposing to premature arterial, intestinal, or uterine rupture. We report a case of a 38-year-old woman with a recent diagnosis of vEDS admitted in the Emergency Department with a suspicion of a pyelonephritis that evolved to a cardiopulmonary arrest. A fatal retroperitoneal hematoma related with a haemorrhagic dissection of the right renal artery was found after emergency surgery. This case highlights the need to be aware of the particular characteristics of vEDS, such as a severe vascular complication that can lead to a fatal outcome.

scholarly journals Geno-phenotypic characteristics of Ehlers–Danlos syndrome: difficulties of disease type identification and approaches to pathogenetic treatment

2021 ◽  
Vol 66 (1) ◽  
pp. 22-30
Author(s):  
E. A. Nikolaeva ◽  
A. N. Semyachkina
Keyword(s):  
Connective Tissue ◽  
Clinical Symptoms ◽  
Molecular Genetic ◽  
Symptomatic Treatment ◽  
Pathological Process ◽  
Social Adaptation ◽  
Molecular Defect ◽  
Ehlers Danlos Syndrome ◽  
Pathogenetic Therapy ◽  
Danlos Syndrome

Veltischev Researchand Clinical Institutefor Pediatricsofthe Pirogov Russian National Research Medical University, Moscow, Russia The article presents modern data on the most common monogenic connective tissue disease – Ehlers–Danlos syndrome. The authors describe two previous classifications of the syndrome: Berlin (1988) classification, which distinguishes 11 types of the disease, and Beyton (1998) classification, which includes 6 types of the syndrome and takes into account the results of molecular genetic studies. Particular attention is paid to a new classification, proposed by the International Consortium in 2017. This classification is based on the clinical and molecular genetic data and unites 13 types of Ehlers–Danlos syndrome, divided in 7 groups (A–G), depending on the main molecular defect. This defect determines the violation of various collagen structures (primary, spatial, cross-linking) and others constituents of the connective tissue (myomatrix, glycosaminoglycans, complement component, etc.). The classification provides general clinical symptoms for all types of the disease and comprehensive information on the specific signs of each of the 13 types of the syndrome.The authors discuss approaches to the pathogenetic therapy of the syndrome, the possibilities of symptomatic treatment, including both medications of different spectrum of action, and physiotherapeutic measures, exercise therapy. The complex of the listed therapeutic measures is aimed at stabilizing the main pathological process, preventing complications, improving the patient’s quality of life and social adaptation. The authors emphasize that correct patient management, targeted medical supervision and medical genetic counseling requires molecular genetic verification of the diagnosis.

Vascular Ehlers-Danlos syndrome presenting in the ICU as aneurysmal subarachnoid haemorrhage

2021 ◽  
Vol 14 (7) ◽  
pp. e243132
Author(s):  
Inês Pimenta ◽  
Rita Varudo ◽  
Filipa Castelao ◽  
Filipe André Gonzalez
Keyword(s):  
Subarachnoid Haemorrhage ◽  
Medical History ◽  
Type Iii Collagen ◽  
Aneurysmal Subarachnoid Haemorrhage ◽  
Ehlers Danlos Syndrome ◽  
Vascular Type ◽  
Gene Coding ◽  
Col3a1 Gene ◽  
Life Threatening ◽  
Danlos Syndrome

Vascular Ehlers-Danlos syndrome is caused by mutations of COL3A1 gene coding for type III collagen. The main clinical features involve a propensity to arterial tears leading to several life-threatening conditions and intensive care unit admission. We, herein, report the case of a 34-year-old woman presenting with an aneurysmal subarachnoid haemorrhage. Endovascular coil treatment was attempted; however, the procedure was complicated by dissection of the left iliac artery and abdominal aorta. Hospital management was marked by a series of vascular and haemorrhagic complications. These events, together with some distinctive physical features and medical history, raised the suspicion of vascular type of Ehlers-Danlos syndrome. Neurological evolution was not favourable, and the patient evolved to brain death. Genetic testing was available postmortem and identified a mutation in the COL3A1 gene. This case illustrates the importance of medical history and clinical suspicion for diagnosis, which often goes unnoticed until major complications occur.

Early and Late Outcomes of Cardiovascular Surgery in Patients With Ehlers-Danlos Syndrome

2021 ◽  
Vol 12 (6) ◽  
pp. 773-777
Author(s):  
Mohamed F. Elsisy ◽  
Alberto Pochettino ◽  
Joseph A. Dearani ◽  
Thomas C. Bower ◽  
Robert D. McBane ◽  
...  
Keyword(s):  
Surgical Outcomes ◽  
Time Frame ◽  
Ehlers Danlos Syndrome ◽  
Vital Status ◽  
Type Iv ◽  
Vascular Type ◽  
Baseline Characteristics ◽  
Danlos Syndrome ◽  
Adult Cardiac Surgery

Background Cardiovascular surgical outcomes reports are few for vascular type IV of Ehlers- Danlos Syndrome (vEDS) compared to non-vascular types I-III (nEDS). Methods To define cardiovascular surgical outcomes among adult patients (≥18 years) with EDS types, a review of our institution's in-house STS Adult Cardiac Surgery Database-compliant software and electronic medical records from Mayo Clinic (1993–2019) was performed. Outcomes were compared for vEDS patients and nEDS patients. Demographics, baseline characteristics, operative, in-hospital complications and follow-up vital status were analyzed. Results Over the study time frame, 48 EDS patients underwent surgery (mean age 52.6 ± 14.6 years; 48% females). Of these, 17 patients had vEDS and 31 patients had nEDS. Six patients (12.5%) underwent prior sternotomy. Urgent or emergent surgery was performed in 10 patients (20.8%). Aortic (vEDS 76.5% vs. nEDS 16.1%) and mitral procedures (vEDS 11.8% vs. nEDS 48.4%) were the two most common cardiovascular surgeries performed (p < .01 and p = .007, respectively). Cardiopulmonary bypass time (CPB) (165 ± 18 vs. 90 ± 13 min; p = .015) and aortic cross clamp times (140 ± 14 vs. 62 ± 10 min; p < .001) were longer for vEDS patients. There was 1 (2.1%) early and 7 (14.6%) late deaths; 6 among vEDS and 2 among nEDS patients. Survival at 5 (80% vs. 93%), 10 (45% vs. 84%) and 15 years (45% vs. 84%) was lower in patients with vEDS (p = .015 for each comparison). Conclusion Cardiovascular surgeries are significantly more complex with longer bypass and cross clamp times for type IV vEDS compared to nEDS patients. Reduced overall survival underscores the complexity and fragility of vEDS patients.

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